Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

The syndrome of diaphragmatic hernia, ab

The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome

✍ Moerman, Philippe ;Fryns, Jean-Pierre ;Vandenberghe, Kamiel ;Devlieger, Hugo ;La 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 579 KB

We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cyst